Gene Symbol | EIF2B1 |
Entrez Gene ID | 1967 |
Full Name | eukaryotic translation initiation factor 2B subunit alpha |
Synonyms | EIF2B,EIF2BA |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Leukoencephalopathy with vanishing white matter, 603896 (3) |